Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome

Michael J. Crawford, Christian Lanctôt, Jacques J. Tremblay, Nancy Jenkins, Debra Gilbert, Neal Copeland, Barbara Beatty, Jacques Drouin

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Ptxl belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal localization of mouse Ptx1, and the cloning, sequencing, and chromosomal localization of the human homolog PTX1. The putative encoded proteins share 100% homology in the homeodomain and are 88% and 97% conserved in the N- and C-termini respectively. Intron/exon boundaries are also conserved. Murine Ptx1 was localized, by interspecific backcrossing, to Chr 13 within 2.6 cM of Caml. The gene resides centrally on Chromosome (Chr) 13 in a region syntenic with human Chr 5q. Subsequent analysis by fluorescent in situ hybridization places the human gene, PTX1, on 5q31, a region associated with Treacher Collins Franceschetti Syndrome. Taken together with the craniofacial expression pattern of Ptx1 during early development, the localization of the gene in this chromosomal area is consistent with an involvement in Treacher Collins Franceschetti Syndrome.

Original languageEnglish (US)
Pages (from-to)841-845
Number of pages5
JournalMammalian Genome
Issue number11
StatePublished - 1997

ASJC Scopus subject areas

  • Genetics


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